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Down's syndrome in children and young people 

Down’s syndrome in children and young people.

This review explores the types, symptoms, causes and psychiatric and medical complications, relating to Down’s syndrome and identifies effective treatments and interventions.

Down’s syndrome occurs in approximately 1 in 800-1,000 live births and is found to affect males and females equally. An estimated 60,000 individuals in the UK have Down’s syndrome. It occurs sporadically, accounting for almost 40% of cases of moderate to severe learning disabilities and is a life-long condition. Women at an older age becoming pregnant are at a higher risk of having a child with Down’s syndrome.

Causes of Down’s syndrome

Down’s syndrome is a chromosomal disorder named after the doctor who first identified it, John Langdon Down. A chromosome is a rod-like structure which stores genetic information and is found in the nucleus of all body cells (except red blood cells).2

Normally, humans have 23 pairs of chromosomes with an unfertilised ova and an individual sperm each carrying a set of 23 chromosomes. On fertilisation, these sets of chromosome combine, giving the total of 23 pairs. In Down’s syndrome, individuals have three copies of chromosome 21, instead of two.2 This has led to the technical name for Down’s syndrome; Trisomy-21.

Cases where there is an extra copy of chromosome 21 account for 92-98% of cases of Down’s syndrome. An alternative chromosomal cause is when part of chromosome 21 attaches to another chromosome (either before or at conception); known as translocation. The least common cause is mosaicism, whereby an extra copy of chromosome 21 is placed in some (but not all) cells.10

The brains of infants with Down’s syndrome appear normal at birth, however, in the first few months of life structural differences begin to occur, with the reduction in size of particular regions such as the hippocampus, cerebellum and cerebral cortices.7,11,12,13 By adulthood, neurological features of Alzheimer’s disease are often evident.10,11,14

Nearly 40 years ago, the highest mortality risk for individuals with Down’s syndrome was during the first year of life.15 Fortunately, with progression in medical care and changes in attitude towards intellectual disabilities and the closing of many institutions, the average age of death has increased to 49 years, with actual life expectancy being more than 60 years, with this figure still further likely to improve.14,16,17,18,19,20

Physical characteristics of Down’s syndrome include:

  • upward-slanting eyes
  • a small mouth, which results in a protruding furrowed tongue
  • fine and sparse straight hair
  • broad hands
  • a flat nasal bridge
  • a short stature
  • a number of dental characteristics such as smaller than normal teeth.

Some individuals have most of these symptoms whilst others only show a few.2,7,8,9

Symptoms

Down’s syndrome not only affects the physical appearance of the individual, but also the ability to learn and develop mentally. The severity of symptoms and range of disabilities varies between individuals; all individuals show a profile of strengths and limitations. Most children with Down’s syndrome are able to learn all of the physical, mental and social skills that most people acquire, they just do it at a slower pace.2

Social skills are seen as a strength, with people with Down’s syndrome being described as ‘charming’, ‘affectionate’, ‘happy’ and ‘outgoing’.21,22 Prosocial behaviours such as sharing, patience, participating in group activities, following rules and accepting redirection are common. Most children demonstrate evidence of peer relationships.21

Challenging behaviours are also common, with around one quarter to one third of individuals with Down’s syndrome showing emotional and conduct problems, such as attentional problems, social withdrawal, noncompliance, repetitive or ritualistic compulsions and misuse of social behaviours.23,24,25,26,27 Males appear to be slightly more at risk of behaviour problems than females.28,29

The development of motor skills is generally slow, with a lack of selfconfidence often enhancing the difficulties.29,30 Problems include low muscle tone, lack of muscle control, muscle stiffness and impairments in a range of fine and gross motor tasks such as balance, posture and flexibility. Running speed, agility and visual-motor control are comparable to typically-developing peers.31,32

Delays in language, communication and speech are profound.32 The development of speech is often delayed and is generally difficult to understand as a result of delays in vocabulary and grammar learning.9,33,34,35 Females often develop more intelligible speech than males.30 Unintelligible speech is likely to be impacted by problems with:

  • syntax (the combination of words into sentences)
  • articulation
  • morphology (structure of words)
  • semantics (meaning of words)
  • phonology (the formation of speech sounds and how they join together into words)
  • pragmatics (the social use of language). 9,36

Expressive language is often impaired.38,39,40 Individuals with Down’s syndrome have a highly arched and constricted hard palate with misaligned teeth; defective articulation may occur from the inability to achieve palate-lingual contact.41 Hearing difficulties are common, particularly conductive or sensorineural hearing losses.42

Cognitively, short attention spans are common30 as well as impaired explicit memory (memory involving phenomenon such as facts and events that are consciously recollected) but implicit memory is intact (indirect memory which does not require conscious recollection). 43,44,45 Visual-spatial memory (non-verbal abilities) is strong compared to verbal processing (linguistic abilities), with difficulties observed in working memory and verbal short-term memory; and the ability to maintain verbal items such as words.46,47,48,49,50,51 Language problems may be associated with poor verbal short-term memory.51

Diagnosis

Down’s syndrome is diagnosed based on a chromosome analysis. A sample of blood is often first taken from the mother to identify risk factors. This is not a definitive test but rather, a screening process aimed at determining whether the risk of the fetus having Down’s syndrome is high enough to warrant the need for an amniocentesis.52

The Nuchal translucency ultrasound scan is also a screening process; a painless procedure which uses high frequency sound waves to produce a measurement of the space between the spine and the nape of the baby’s neck. Babies with Down’s syndrome generally have more fluid in the neck than usual and therefore, the likelihood of the fetus having Down’s syndrome can be determined by measuring the thickness of fluid.2

Diagnostic tests, such as chorionic-villus sampling (CVS; usually available at ten to twelve weeks) or amniocentesis (usually offered at sixteen weeks) are sometimes required.54 CVS involves taking a small sample of the placenta by passing a thin needle through the wall of the abdomen or passing a small tube through the vagina and the cervix. Amniocentesis involves taking a small sample of amniotic fluid by passing a needle through the abdomen and womb. Complications can occur with both these procedures including infection, injury to the baby or mother and heavy bleeding, with 1% of women experiencing a miscarriage, however, this risk is small and most procedures cause no complications.2

Diagnosis can also be made post-natally as a result of characteristic appearance.

Psychiatric complications

Children with Down’s syndrome are at a lower risk of developing significant psychopathology compared to children with other intellectual disorders, however they are more likely han the general population to show behavioural, emotional and psychiatric difficulties. haracteristics include aggression, disobedience, inability to maintain attention, stubbornness, disruptive behaviours, conduct or oppositional behaviours, anxiety disorders, repetitive behaviours, attention seeking, impulsivity and particular characteristics of obsessive compulsive disorder (OCD) such as compulsive ordering and tidiness.25,26,28,29,54,55

Discrepancies between psychiatric disorders shown in childhood and adolescence have been documented55 with externalising behaviours decreasing in adolescence but internalising behaviours, particularly social withdrawal, preferring to be alone, and anxiety, increasing.56

An increased vulnerability to depression has been found, which may be attributed to genetic factors, environmental stressors or both.29,30,55,56,57 As a result of many individuals with Down’s syndrome having difficulties reporting subjective experiences, diagnosing depression can be difficult.29,58

Anti-depressants have been suggested as appropriate treatment for depression.60 Serotonin Specific Reuptake Inhibitors (SSRIs) with risperidone augmentation therapy has been recommended to improve OCD symptoms.59

High rates of autistic spectrum disorders (ASDs) are found in individuals with Down’s syndrome.60,61,62,63,64 ASDs can be severely debilitating with social, communication and behavioural difficulties. Characteristics shown in individuals with Down’s syndrome include lower IQ, social withdrawal, poor use of eye contact, restricted interests, anxiety, hand-lapping, compulsivity, severe and odd stereotypic behaviours and body rocking. 63,64 Risk factors identified for ASD in children with Down’s syndrome include post-cardiac surgery complications, lower IQ, first or second degree relatives with ASD.65,66 Individuals with both ASD and Down’s syndrome are particularly challenged and therefore, important research developments must target suitable interventions.

Medical complications

Individuals with Down’s syndrome are more at risk of developing certain medical conditions,2,5,20,21,29,66,67,68,69,70 particularly:

  • thyroid disorders
  • sleep disorders
  • skin disorders
  • osteoporosis
  • diabetes
  • othopaedic conditions
  • serious heart defects, particularly congenital heart disease
  • hearing and visual disorders
  • leukaemia
  • seizures
  • infectious diseases, particularly pneumonia
  • obesity
  • premature ageing and dementia.

Preventative dental care programmes have often been found to be effective in treating dental conditions such as periodontis, thus, ensuring routine dental checks is important.1,71

Speech therapy, sign language, hearing aids and cochlear implants may all be effective in treating hearing loss.1

To target obesity, the recommendation is to begin a regime intervention at two years of age, with the inclusion of food selections, behavioural interventions, physical and social activities and possibly, supplementary vitamins and minerals.1 Advocating friendships and social activities can help to combat obesity in children.7

Treating sleep disorders is important as a lack of sleep can have a detrimental impact on daytime behaviour and learning. Behavioural treatments are preferable to medication, however, they are often difficult to implement. Treatments giving group instruction to mothers to reduce sleep behavioural problems have been found to be effective.74

Thyroid supplementation (such as Synthroid), anti-anxiety medications, anticonvulsants and multivitamins are often used.70 Nutritional supplements targeting behavioural and physical characteristics are popular with nutritional thyroid support (such as bovine glandular, iodine, selenium and zinc) are often considered as a first line of treatment for hypothyroidism. 71 Nutritional supplements taken by the mother prenatally may be beneficial. 71

Treatment options and interventions

There are treatments that can aid individuals with Down’s syndrome in leading active, fulfilling and independent lives. Interventions must consider intellectual and adaptive functioning, as well as behavioural, physical and medical conditions. A multi-disciplinary team is generally involved and regular check-ups are required to continue monitoring individuals’ health.2

Interventions are often more effective when started early.7 A promising early intervention is known as Responsive Teaching, whereby an early curriculum is implemented by parents or caregivers and encourages the development of teaching strategies aimed at addressing ‘pivotal behaviours’ (such as social play, problem-solving, joint attention, intentional communication and self-regulation).74

Motor learning has been found to require spontaneous motor experiences, which can be encouraged by parents.75

Parent-oriented strategies can facilitate pre-linguistic learning. Responsivity education/pre-linguistic milieu teaching, whereby toddlers are taught to use gestures, vocalisations and eye gaze during social interactions, and parents are taught to respond to verbal and non-verbal behaviours, has been found to be effective.76

Augmentative or alternative communication methods may facilitate language development and can be utilised through communication boards, books or computerised speech production devices; a Voice Output Communication Aid.9 AAC methods have been shown to be effective for children, potentially reducing frustration and unacceptable means of communication, which result when the individual is unable to express themselves.77

As visual-spatial processing has been shown to be intact in individuals with Down’s syndrome, a visual processing-based sight-word approach to reading may be beneficial for children with this condition. Although this may not readily allow for the acquisition and generalisation of words, it does increase the child’s ability to function independently. Furthermore, such a whole-word approach focuses less on short-term auditory memory and therefore, children are not required to rely on a skill that is generally found to be deficient.7

The psychoactive drug Piracetam has received much interest in treating cognitive deficits 1, 78 although persistent cognitive beneficial effects have not always been found. 79, 80 Alternatively, Donepezil shows evidence of efficacy in some patients, particularly in enhancing memory, language and sustained attention. 80,81,82 Some side-effects such as diarrhoea, fatigue, nausea and insomnia do occur, however, the drug is generally well-tolerated. 83

Behavioural analysis

Behaviour analysis assumes that regardless of whether behaviours are useful (e.g., self-help skills) or harmful (e.g., challenging behaviours), they are all learned. When behaviours are reinforced, the tendency to repeat them is increased as they provide reward for the individual. The use of behavioural modification requires patience, skill, effort and perseverance, however, when applied accurately, it can be very beneficial. It can occur in therapeutic or naturalistic settings and targets a range of skills, particularly the acquisition of daily living and adaptive skills such as self-help, language, social behaviour, academic skills and work behaviours.84

Positive Behaviour Support is an effective behaviour analysis intervention for challenging behaviour. This intervention consists of strategies targeting multiple variables which influence challenging behaviour, including targeting direct or indirect events that influence the likelihood of challenging behaviours occurring, implementing interventions prior to the occurrence of the problem behaviours to prevent them occurring, teaching replacement skills (teaching efficient ways of obtaining the consequences the individual desires when they act in challenging ways) and teaching appropriate consequential responses from others, following the child either engaging or refraining from the challenging behaviour, after the occurrence of an antecedent associated with that behaviour.85

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